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NM_153700.2(STRC):c.4402C>T (p.Arg1468Ter) AND Rare genetic deafness

Germline classification:
Pathogenic (1 submission)
Last evaluated:
Jul 5, 2017
Review status:
1 star out of maximum of 4 stars
criteria provided, single submitter
Somatic classification
of clinical impact:
None
Review status:
(0/4) 0 stars out of maximum of 4 stars
no assertion criteria provided
Somatic classification
of oncogenicity:
None
Review status:
(0/4) 0 stars out of maximum of 4 stars
no assertion criteria provided
Record status:
current
Accession:
RCV000156556.6

Allele description [Variation Report for NM_153700.2(STRC):c.4402C>T (p.Arg1468Ter)]

NM_153700.2(STRC):c.4402C>T (p.Arg1468Ter)

Gene:
STRC:stereocilin [Gene - OMIM - HGNC]
Variant type:
single nucleotide variant
Cytogenetic location:
15q15.3
Genomic location:
Preferred name:
NM_153700.2(STRC):c.4402C>T (p.Arg1468Ter)
HGVS:
  • NC_000015.10:g.43603385G>A
  • NG_011636.1:g.20416C>T
  • NM_153700.2:c.4402C>TMANE SELECT
  • NP_714544.1:p.Arg1468Ter
  • NC_000015.9:g.43895583G>A
  • p.Arg1468X
Protein change:
R1468*
Links:
dbSNP: rs377480477
NCBI 1000 Genomes Browser:
rs377480477
Molecular consequence:
  • NM_153700.2:c.4402C>T - nonsense - [Sequence Ontology: SO:0001587]
Observations:
2

Condition(s)

Name:
Rare genetic deafness
Identifiers:
MedGen: C5680250; Orphanet: 96210

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Assertion and evidence details

Help
Submission AccessionSubmitterReview Status
(Assertion method)		Clinical Significance
(Last evaluated)		OriginMethodCitations
SCV000206275Laboratory for Molecular Medicine, Mass General Brigham Personalized Medicine
criteria provided, single submitter

(LMM Criteria)		Pathogenic
(Jul 5, 2017) 		germlineclinical testing

PubMed (2)
[See all records that cite these PMIDs]

Help

Summary from all submissions

EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
not providedgermlinenot provided22not providednot providednot providedclinical testing

Citations

PubMed

Comprehensive diagnostic testing for stereocilin: an approach for analyzing medically important genes with high homology.

Mandelker D, Amr SS, Pugh T, Gowrisankar S, Shakhbatyan R, Duffy E, Bowser M, Harrison B, Lafferty K, Mahanta L, Rehm HL, Funke BH.

J Mol Diagn. 2014 Nov;16(6):639-47. doi: 10.1016/j.jmoldx.2014.06.003. Epub 2014 Aug 23.

PubMed [citation]
PMID:
25157971

A systematic approach to assessing the clinical significance of genetic variants.

Duzkale H, Shen J, McLaughlin H, Alfares A, Kelly MA, Pugh TJ, Funke BH, Rehm HL, Lebo MS.

Clin Genet. 2013 Nov;84(5):453-63. doi: 10.1111/cge.12257.

PubMed [citation]
PMID:
24033266
PMCID:
PMC3995020

Details of each submission

From Laboratory for Molecular Medicine, Mass General Brigham Personalized Medicine, SCV000206275.5

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not provided2not providednot providedclinical testing PubMed (2)

Description

The p.Arg1468X variant in STRC has been identified by our laboratory in 1 Caucas ian individual with hearing loss who carried a second, pathogenic variant on the other allele. It has also been identified in 18/126662 European chromosomes by the Genome Aggregation Database (gnomAD, http://gnomad.broadinstitute.org; dbSNP rs377480477). Although this variant has been seen in the general population, it s frequency is low enough to be consistent with a recessive carrier frequency. T his nonsense variant leads to a premature termination codon at position 1468, wh ich is predicted to lead to a truncated or absent protein. In summary, the p.Arg 1468X variant meets criteria to be classified as pathogenic for hearing loss in an autosomal recessive manner based on its predicted impact on the protein.

#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1germlinenot providednot providednot providednot provided2not provided2not provided

Last Updated: Oct 13, 2024